Porphyria Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

The synthesis of which compound is disrupted in porphyria?

A

Heam

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What does the build up of porphyrins affect?

A

Skin

Nervous system

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What enzyme is deficient in porphyria cutanea tarda (PCT)?

A

Uroporphyrinogen decarboxylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What enzyme is deficient in porphyria erythropoietic protoporphyria?

A

Ferrochelatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What enzyme is deficient in porphyria acute intermittent porphyria?

A

Porphobiliogen (PBG) deaminase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What metabolite builds up in porphyria cutanea tarda (PCT)?

A

Uroporphyrinogen III

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What metabolite builds up in erythropoeitic protoporphyria?

A

Protoporphyrin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What metabolite builds up in acute intermittent porphyria?

A

Porphobilinogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the commonest porphyria?

A

Porphyria cutanea tarda (PCT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What causes porphyria cutanea tarda (PCT)?

A

Genetics (congenital PCT)

Liver damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How does porphyria cutanea tarda (PCT) present?

A

Skin fragility and photosensitivity

Hyperpigmentation and thickening of skin

Excessive hair growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What investigations can be done in porphyria cutanea tarda (PCT)?

A

Urine Wood’s lamp

urine glows due to excess porphyrins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How does erythropoietic protoporphyria present?

A

In childhood with photosensitivity causing swelling, blistering and scarring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What investigations can be done in erythropoietic protoporphyria?

A

RBC Wood’s lamp

RBC glow due to excess porphyrins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How is erythropoietic protoporphyria treated?

A

Avoidance of sun
Sunscreen

Anti-oxidant supplements

Phototherapy (TL-01)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What test is performed regularly (how often?) in patients with erythropoietic protoporphyria and why?

A

Every 6 months

RBC porphyrins
LFTs

Erythropoietic protoporphyria can progress to liver disease

17
Q

What does acute intermittent porphyria present with?

A

Stomach pain
Muscle weakness
Peripheral neuropathy
Psychosis

18
Q

What porphyria has the least cutaneous signs?

A

Acute intermittent porphyria